Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients [0.03%]
土耳其 Duchenne 肌营养不良患者的基因型和临床表型及其家族特征研究
Hande Ozkalayci,Elcin Bora,Tufan Cankaya et al.
Hande Ozkalayci et al.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive allelic muscle diseases caused by dystrophin gene mutations. Eight hundred thirty-seven patients admitted between 1997 and 2022 were included in th...
Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center [0.03%]
贝尔格莱德记忆中心招募的患者中C9orf72、GRN和MAPT致病性变异的频率
Elka Stefanova,Ana Marjanović,Valerija Dobričić et al.
Elka Stefanova et al.
Most of the heritability in frontotemporal dementia (FTD) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (C9orf72), pathogenic/likely pathogenic variants in progranulin (GRN), and m...
Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis [0.03%]
打击EB病毒的要害：探索计算方法针对EB病毒引起的多发性硬化症进行siRNA治疗
Taiwo Ooreoluwa Ojo,Oluwabamise Emmanuel Elegbeleye,Olawale Quadri Bolaji et al.
Taiwo Ooreoluwa Ojo et al.
Multiple sclerosis (MS), an intricate neurological disorder, continues to challenge our understanding of the pivotal interplay between the immune system and the central nervous system (CNS). This condition arises from the immune system's mi...
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability [0.03%]
临床基因组学扩大了错误细胞分裂、原发性小头畸形和智力障碍之间的联系
Saima,Amjad Khan,Sajid Ali et al.
Saima et al.
Primary microcephaly is a rare neurogenic and genetically heterogeneous disorder characterized by significant brain size reduction that results in numerous neurodevelopmental disorders (NDD) problems, including mild to severe intellectual d...
Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis [0.03%]
胶质母细胞瘤中外基质成分的鉴定：靶向新生血管和预后标志
Lucas Cunha Barbosa,Gabriel Cardoso Machado,Manoela Heringer et al.
Lucas Cunha Barbosa et al.
Glioblastomas (GBM) are aggressive tumors known for their heterogeneity, rapid proliferation, treatment resistance, and extensive vasculature. Angiogenesis, the formation of new vessels, involves endothelial cell (EC) migration and prolifer...
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders [0.03%]
高表型变异的神经肌肉病患者的基因检测中运用下一代测序组的高效性研究
Wiktoria Radziwonik-Fraczyk,Ewelina Elert-Dobkowska,Marek Karpinski et al.
Wiktoria Radziwonik-Fraczyk et al.
Neuromuscular disorders (NMDs) include a wide range of diseases affecting the peripheral nervous system. The genetic diagnoses are increasingly obtained with using the next generation sequencing (NGS). We applied the custom-design targeted ...
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature [0.03%]
NARS1基因的两种新型变异导致早期吞咽困难和严重神经发育障碍的病例报告及文献简述
Carlo Alberto Cesaroni,Gianluca Contrò,Carlotta Spagnoli et al.
Carlo Alberto Cesaroni et al.
Aminoacyl-tRNA synthetases (ARSs) aminoacylate tRNA molecules with their cognate amino acid, enabling information transmission and providing substrates for protein biosynthesis. They also take part in nontranslational functions, mediated by...
Two more families supporting the existence of monogenic spinocerebellar ataxia 48 [0.03%]
两大家系支持脊髓小脑性共济失调48型为单基因遗传病
Flavia Palombo,Alessandro Vaisfeld,Valentina Concetta Tropeano et al.
Flavia Palombo et al.
The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We h...
Case Reports
Neurogenetics. 2024 Jul;25(3):277-280. DOI:10.1007/s10048-024-00758-8 2024
Valentinus Besin,Farizky Martriano Humardani,Trilis Yulianti et al.
Valentinus Besin et al.
Vascular risk factors, including diabetes, hypertension, hyperlipidemia, and obesity, pose significant health threats with implications extending to neuropsychiatric disorders such as stroke and Alzheimer's disease. The Asian population, in...
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71 [0.03%]
鉴定出与发育性和癫痫性脑病(DEE)型71相关的新型GLS基因纯合变异体
Afsaneh Bazgir,Mehdi Agha Gholizadeh,Seyyed Mohammad Kahani et al.
Afsaneh Bazgir et al.
Developmental and epileptic encephalopathy (DEEs) (OMIM#618,328) is characterized by seizures, hypotonia, and brain abnormalities, often arising from mutations in genes crucial for brain function. Among these genes, GLS stands out due to it...
Case Reports
Neurogenetics. 2024 Jul;25(3):225-232. DOI:10.1007/s10048-024-00753-z 2024